Abstract
Hyperinsulinism (HI) is the most common cause of transient and permanent forms of hypoglycemia in infancy. Establishing the correct diagnosis and initiating appropriate therapy without delay is of utmost importance. Once the diagnosis is made and if medical therapy with diazoxide fails, one should assume that the infant has a K(ATP) channel defect and may require surgery. In this case, the infant should be referred to a center that specializes in HI with 18-fluoro L-3,4-dihydroxyphenylalanine positron emission tomography scan. This report describes a center specializing in HI with a team of experts consisting of endocrinologists, nurse practitioners, geneticists, radiologists, pathologists, and a surgeon. It describes the center's paradigm for managing severe HI on the basis of more than 250 cases of HI in the past 10 years, including the diagnosis of HI, medical options, genetics of HI, imaging in HI, the surgical approach to HI, and outcomes.
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